spastic paraplegia, intellectual disability, nystagmus, and obesity
MONDO:0015007Mondo
Findings
No curated finding names spastic paraplegia, intellectual disability, nystagmus, and obesity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Fetal onset
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BrachycephalyHPOHP:0000248
- 3 of 3 reported patients
- Delayed ability to standHPOHP:0025335
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HypermetropiaHPOHP:0000540
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Lateral ventricle dilatationHPOHP:0006956
- 3 of 3 reported patients · Fetal onset
- Lower limb hypertoniaHPOHP:0006895
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Optic nerve dysplasiaHPOHP:0001093
- 1 of 1 reported patient
- PlagiocephalyHPOHP:0001357
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- 1 of 1 reported patient
Show the remaining 27
- Spastic gaitHPOHP:0002064
- 1 of 1 reported patient
- Spastic paraplegiaHPOHP:0001258
- 3 of 3 reported patients
- Tip-toe gaitHPOHP:0030051
- 1 of 1 reported patient
- ObesityHPOHP:0001513
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- AstigmatismHPOHP:0000483
- 2 of 3 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KIDINS220HGNC:29508
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021